ORPHA:91483
Rieger anomaly
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of Axenfelds anomaly.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rieger anomaly | |
| fr | Anomalie de Rieger | Anomalie de Rieger-Axenfeld |
| de | Rieger-Anomalie | Rieger-Axenfeld-Anomalie |
| es | Anomalía de Rieger | Anomalía de Rieger-Axenfeld |
| it | Anomalia di Rieger | Anomalia di Axenfeld-Rieger |
| nl | Rieger-anomalie | Afwijking van Rieger · Anomalie van Rieger |
| pt | Anomalia de Rieger-Axenfeld | |
| pl | Zespół Riegera | |
| cs | Riegerova anomálie | |
| uk | Аномалія Рігера | |
| zh | Rieger综合征 | |
| tr | Rieger anomalisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 137600 | BTNT | validated | |
| OMIM | 601631 | NTBT | validated | |
| OMIM | 602482 | NTBT | validated | |
| ICD-10 | Q13.8 | NTBT | inclusion | validated |
| ICD-11 | LA11.2 | NTBT | index | validated |
| MONDO | 0019628 | E | validated | |
| UMLS | C0265341 | E | validated | |
| MedDRA | 10059198 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98634Anterior segment developmental anomaly without extraocular manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FOXC1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3800 | ENSG00000054598 | 601090 | 6p25.3 | forkhead box C1 | 9620769[PMID]_11170889[PMID] |
| PITX2 | Disease-causing germline mutation(s) in | Assessed | HGNC:9005 | ENSG00000164093 | 601542 | 4q25 | paired like homeodomain 2 | 19513095[PMID]_24433355[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/91483
- This record as JSON: /data/d/91483.json